A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23948



Internal ID9622500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36016309..36363515hg38UCSC Ensembl
Innerchr2:36243452..36590658hg19UCSC Ensembl
Innerchr2:36096956..36444162hg18UCSC Ensembl
Innerchr2:36155103..36502309hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38347207
hg19347207
hg18347207
hg17347207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757792
Supporting Variants
SamplesNA12814
Known GenesCRIM1, LOC100288911
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv23948
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer